DisGeNET - a database of gene-disease associations

Lobar Holoprosencephaly, C0431362

Gene: FGFR1 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

0.400

GeneticVariation

disease

ORPHANET

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.

2016

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

0.400

GeneticVariation

disease

CLINVAR

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

0.400

Biomarker

disease

HPO